Canonical Allele Identifier: CA863497219
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1284044326
gnomAD v3: 9-34649369-A-G
gnomAD v4: 9-34649369-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649369A>G , CM000671.2:g.34649369A>G GRCh38
NC_000009.11:g.34649366A>G , CM000671.1:g.34649366A>G GRCh37
NC_000009.10:g.34639366A>G NCBI36
NG_009029.1:g.7732A>G
NG_028966.1:g.2185A>G
NG_009029.2:g.7781A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493-41A>G ENSP00000509954.1:n.*493-41A>G
ENST00000378842.8:c.905-41A>G MANE Select ENSP00000368119.4:n.905-41A>G
ENST00000378842.7:c.905-41A>G ENSP00000368119.3:n.905-41A>G
ENST00000450095.6:c.578-41A>G ENSP00000401956.2:n.578-41A>G
ENST00000488412.2:n.448A>G
ENST00000489643.6:n.1272A>G
ENST00000554550.5:c.*525-41A>G ENSP00000451435.1:n.*525-41A>G
ENST00000554638.5:n.1377-41A>G
ENST00000555020.5:n.1653A>G
ENST00000555754.1:n.353-41A>G
ENST00000556278.1:c.432+913A>G ENSP00000451792.1:n.432+913A>G
ENST00000557706.5:n.1480-41A>G
NM_000155.3:c.905-41A>G NP_000146.2:n.905-41A>G
NM_001258332.1:c.578-41A>G NP_001245261.1:n.578-41A>G
NM_000155.4:c.905-41A>G MANE Select NP_000146.2:n.905-41A>G
NM_001258332.2:c.578-41A>G NP_001245261.1:n.578-41A>G